ESPE Abstracts

Background: Monitoring of thyroid function in neonates born from mothers affected by autoinmune thyroid disease is not perfectly established. The influence of etiology of maternal disease, maternal thyroid peroxidase antibodies (TPOAb) and l-thyroxine therapy during pregnancy on neonatal thyroid function were also investigated.Method: 194 term neonates were tested for thyroid function by measurement of free thyroxine (FT4</s...

Background: Hypothalamic obesity (HyOb) is a disease characterized by weight gain resistant to lifestyle changes and dietary restriction. The main clinical findings are hyperfagia and decline of satiety, high levels of insulin and an increase of adipogenesis. The major problem for these patients is that conventional treatments, either medical or surgical are not succesful and have variable results.Objective and hypotheses: We aim to describe the natural ...

A structured program of therapeutic education is essential to achieve a good result from the use of technology in the treatment of diabetes.Objectives: Facilitate knowledge, skills and aptitudes to patients and their families in therapy. Promote the capacity for self-management and adherence to treatment. Provide ongoing support to patients. Improve clinical outcomes, health status and quality of life.Metho...

Background: The pseudohypoparathyroidism (PHP) encompasses a heterogeneous group of clinical entities caused by a defect in the peripheral action of parathyroid hormone (PTH). Biochemically it manifests itself with hypocalcemia, hyperphosphatemia and elevated PTH. PHP-Ia is the most frequent and multiple hormone resistance, associated signs of Albright hereditary osteodisfrofia (OHA) and mutations in the gene encoding GNAS Gsa protein.Case presentation: ...

Introduction: Hypothyroidism is a frequent endocrinopathy in pediatric age. The most common manifestation in children is growth delay with decreased height velocity. Symptoms can be insidious and, if not identified ant treated, result in short stature.Aim: To evaluate stature catch-up after replacement therapy in children with primary acquired hypothyroidism.Methods: Retrospective study of all children with primary acquired hypothy...

Background: Obesity is a worldwide epidemic affecting adults and children. Social changes throughout history have contributed to modifications in nutrition and physical activity levels. These changes in lifestyle affected health, increasing the number of metabolic and cardiovascular diseases. Obese children already have a low grade systemic inflammation as well as markers of increased cardiovascular risk. The endothelial function is an important and early marker of atheroscler...

Indels are highly abundant in human genomes and have contributed massively to genome evolution. However, the role of indels and their underlined mechanisms of mutagenesis in Mendelian disorders still needs to be appreciated. To explore the contribution of indels in a monogenic disorder, we analyzed all indels already described in the AR gene, including three novel indels found in our cohort. We analyzed the indel distribution through the AR coding region, compared wit...

Currently in Spain, treatment with GH is approved for hospital use with different formulations (JM), multidose vials (VM) and systems with electronic self-injection devices (DE). The long-term treatments, involves the lack of adherence to GH in pediatric patients, it has been estimated a lack of adherence between 5 and 82%. The main objective of this study is to perform a comparative analysis of costs and product loss among the different GH presentations approved in Spain in p...

Background: Severe primary insulin-like growth factor-1 deficiency (SPIGFD) is a rare condition for which replacement therapy with recombinant human insulin-like growth factor-1 (rhIGF 1; mecasermin [Increlex®]) is approved for treatment in Europe and the USA. SPIGFD is defined as a height standard deviation score (HtSDS) ≤-3, and baseline IGF-1 <2.5th percentile (European indication) or ≤-3 SDS (USA indication) for age and gender, desp...

Congenital hyperinsulinism (CHI) is an ultra-rare disease characterized by excessive insulin secretion that results in persistent hypoglycemia. If left untreated, CHI-induced severe prolonged hypoglycemia may lead to permanent neurologic damage. Currently used pharmacologic agents fail to prevent hypoglycemia in a subset of patients with CHI. HM15136 is a novel long-acting glucagon analogue that have demonstrated good stability and extended half-life ranging from 77 to 167 hou...